Journal of Pediatric Genetics 2014_02-_Ciliopathies.html Ocak 27, 2025’' te gönderildi osman tarafından Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 03 · June 2014 DOI: 10.1055/s-005-29733 Ciliopathies Guest Editorial 047 Mans, Dorus A.; Arts, Heleen H.: Medical genetics of ciliopathies Full Text PDF (26 kb) Review Article 049 Schmidts, Miriam: Clinical genetics and pathobiology of ciliary chondrodysplasias Full Text PDF (725 kb) 065 Szymanska, Katarzyna; Hartill, Verity L.; Johnson, Colin A.: Unraveling the genetics of Joubert and Meckel-Gruber syndromes Full Text PDF (333 kb) 079 de Vries, Tamar I.; van Haelst, Mieke M.: Ciliary disturbances in syndromal and non-syndromal obesity Full Text PDF (241 kb) 089 Guay-Woodford, Lisa M.: Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases Full Text PDF (752 kb) 103 Srivastava, Shalabh; Sayer, John A.: Nephronophthisis Full Text PDF (256 kb) 115 Paff, Tamara; Daniels, Johannes M.A.; Pals, Gerard; Haarman, Eric G.: Primary ciliary dyskinesia: From diagnosis to molecular mechanisms Full Text PDF (198 kb) 129 Klasson, Timothy D.; Giles, Rachel H.: The role of the cilium in hereditary tumor predisposition syndromes Full Text PDF (320 kb) osman 2016_02-_Hereditary_Cancer_Syndromes_in_Children.html 2013_01-_1-51.html